Variant report

Variant	rs58772144
Chromosome Location	chr7:139613504-139613505
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139607014..139608551-chr7:139612909..139615880,2	K562	blood:
2	chr7:139609932..139611578-chr7:139613494..139615788,2	MCF-7	breast:
3	chr7:139609132..139615823-chr7:139616902..139621625,10	K562	blood:
4	chr7:139608918..139612096-chr7:139612765..139616269,8	K562	blood:
5	chr7:139612773..139615272-chr7:139618584..139621625,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17161202	1.00[EUR][1000 genomes]
rs17161226	1.00[EUR][1000 genomes]
rs17161239	0.90[EUR][1000 genomes]
rs1859568	1.00[EUR][1000 genomes]
rs73734134	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv889245	chr7:139599229-139657221	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139607000-139615400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:139608600-139615000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr7:139608600-139615200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr7:139608800-139615600	Strong transcription	Primary hematopoietic stem cells	blood
5	chr7:139609200-139614000	Weak transcription	HUVEC	blood vessel
6	chr7:139609200-139615200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:139609600-139613800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:139609800-139614000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:139609800-139614000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:139609800-139614200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:139609800-139615800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:139609800-139621800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:139610000-139613600	Weak transcription	Lung	lung
14	chr7:139610000-139613800	Weak transcription	Osteobl	bone
15	chr7:139610000-139614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:139610000-139614200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:139610000-139614200	Weak transcription	Aorta	Aorta
18	chr7:139610000-139614200	Weak transcription	Psoas Muscle	Psoas
19	chr7:139610000-139614200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:139610000-139614200	Weak transcription	HSMMtube	muscle
21	chr7:139610000-139614200	Weak transcription	NHEK	skin
22	chr7:139610000-139614400	Weak transcription	Fetal Lung	lung
23	chr7:139610200-139613600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:139610200-139614200	Weak transcription	Right Atrium	heart
25	chr7:139611400-139614600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:139611800-139614200	Weak transcription	GM12878-XiMat	blood
27	chr7:139612200-139615400	Strong transcription	Fetal Thymus	thymus
28	chr7:139612400-139614600	Strong transcription	Thymus	Thymus
29	chr7:139612400-139615400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:139612400-139618000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:139612600-139615400	Strong transcription	Primary B cells from cord blood	blood
32	chr7:139612600-139617400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:139612800-139613600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:139612800-139613600	Strong transcription	Spleen	Spleen
35	chr7:139612800-139613800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:139612800-139615400	Strong transcription	Primary T cells from cord blood	blood
37	chr7:139612800-139617400	Enhancers	NHLF	lung
38	chr7:139612800-139617600	Enhancers	NHDF-Ad	bronchial
39	chr7:139613000-139614200	Enhancers	K562	blood
40	chr7:139613200-139613600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:139613200-139614000	Weak transcription	Fetal Stomach	stomach
42	chr7:139613400-139613800	Weak transcription	HSMM	muscle
43	chr7:139613400-139614400	Weak transcription	Fetal Heart	heart
44	chr7:139613400-139615200	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:139613400-139616000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:139613400-139616000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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